BRCA1致病性突变与5种癌症的疾病风险增加显著相关,包括卵巢癌(OR=75.6)、女性乳腺癌(OR=16.1)、胆管癌(OR=17.4)、胃癌(OR=5.2)和胰腺癌(OR=12.6);BRCA2致病性突变与7种癌症的发病风险增加有关,包括女性乳腺癌(OR=10.9)、胃癌(OR=4.7)、卵巢癌(OR=11.3)、男性乳腺癌(OR=67.9)、胰腺癌(OR=10.7)、前列腺癌...
BRCA1致病性突变与5种癌症的疾病风险增加显著相关,包括卵巢癌(OR=75.6)、女性乳腺癌(OR=16.1)、胆管癌(OR=17.4)、胃癌(OR=5.2)和胰腺癌(OR=12.6);BRCA2致病性突变与7种癌症的发病风险增加有关,包括女性乳腺癌(OR=10.9)、胃癌(OR=4.7)、卵巢癌(OR=11.3)、男性乳腺癌(OR=67.9)、胰腺癌(OR=10.7)、前列腺癌...
BRCA1致病性突变与5种癌症的疾病风险增加显著相关,包括卵巢癌(OR=75.6)、女性乳腺癌(OR=16.1)、胆管癌(OR=17.4)、胃癌(OR=5.2)和胰腺癌(OR=12.6);BRCA2致病性突变与7种癌症的发病风险增加有关,包括女性乳腺癌(OR=10.9)、胃癌(OR=4.7)、卵巢癌(OR=11.3)、男性乳腺癌(OR=67.9)、胰腺癌(OR=10.7)、前列腺癌...
Since the discovery of the familial breast cancer susceptibility genes BRCA1 and BRCA2, genetic counseling and molecular analysis in the identification of mutations responsible for the increased risk of breast and ovarian cancer have become crucial steps in the clinical practice. In fact, the ...
本研究结果扩大了与BRCA1和BRCA2致病性突变相关的癌症类型范围,明确了有相关癌症家族史的个体进行基因检测的临床意义,同时为这些癌症患者的治疗提供了更多选择。 参考文献 [1]Armstrong K, Weiner J, Weber B, Asch DA. Early adoption of BRCA1/2 testing: who and why. Genet Med. 2003;5(2):92-98. doi...
Family members may still elect to undergo comprehensive BRCA1/ BRCA2 genetic testing in this case. However, in this scenario, the ability to interpret a negative result of comprehensive BRCA1/BRCA2 genetic testing for an individual unaffected by breast or ovarian cancer is limited. It could be...
et al. BRCA1 testing in families with hereditary breast–ovarian cancer. A prospective study of patient decision making and outcomes. JAMA 275, 1885–1892 (1996). CAS PubMed Google Scholar Rebbeck, T. R. et al. Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N. Engl...
BRCA1 and BRCA2 gene pathogenic variants account for most hereditary breast cancer and are increasingly used to determine eligibility for PARP inhibitor (PARPi) therapy of BRCA-related cancer. Because issues of BRCA testing in clinical practice now overlap with both preventive and therapeutic managemen...
Informed Consent for BRCA1 and BRCA2 Testing.While the cloning of BRCA1 and BRCA2 in 1994 and 1995 engendered great enthusiasm from cancer patients, their families and physicians, concerns about potential problems faced by those undergoing genetic testing were also evident. Although much can be ...
1. 检测区域完整:覆盖外显子全长区域,以及外显子与内含子连接区域±20bp,检测区域更完整,不漏检任何一个可能的致病突变; 2. 严格遵循指南指导:随时关注指南更新,根据指南信息升级检测内容; 适用人群 晚期HER2阴性乳腺癌患者,卵巢癌患者 检测基因 BRCA1 BRCA2 产品详情 复制产品链接 分享复制产品链接 相关...